Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1

Molecular Genetics and Metabolism

Volumn 106, Issue 3, 2012, Pages 375-378

  Kretz, Rita ^a   Hu, Liyan ^a   Wettstein, Véronique ^a   Leiteritz, Dana ^a   Häberle, Johannes ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Carbamoylphosphate synthetase 1; Mutation analysis; Phytohemagglutinin; RNA; Transcript variants; Urea cycle

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE; PHYTOHEMAGGLUTININ; RNA;

ARTICLE; BLOOD CULTURE; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FIBROBLAST CULTURE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LYMPHOCYTE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST;

CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; INFANT, NEWBORN; LYMPHOCYTES; MUTATION; PHYTOHEMAGGLUTININS; RETROSPECTIVE STUDIES; RNA;

EID: 84862555677     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.04.011     Document Type: Article

References (22)

1. Brusilow S., Horwich A. Urea cycle enzymes. The Metabolic & Molecular bases of Inherited Disease 2001, 1909-1963. McGraw-Hill, New York. C. Scriver, A. Beaudet, W. Sly, D. Valle (Eds.).
2. Summar M.L. Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers. J. Inherit. Metab. Dis. 1998, 21(Suppl. 1):30-39.
3. Rubio V., Ramponi G., Grisolia S. Carbamoyl phosphate synthetase I of human liver. Purification, some properties and immunological cross-reactivity with the rat liver enzyme. Biochim. Biophys. Acta 1981, 659(1):150-160.
4. Yefimenko I., Fresquet V., Marco-Marin C., Rubio V., Cervera J. Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality. J. Mol. Biol. 2005, 349(1):127-141.
5. Häberle J., Shchelochkov O.A., Wang J., Katsonis P., Hall L., Reiss S., Eeds A., Willis A., Yadav M., Summar S., Lichtarge O., Rubio V., Wong L.J., Summar M. Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum. Mutat. 2011, 32(6):579-589.
6. Finckh U., Kohlschutter A., Schafer H., Sperhake K., Colombo J.P., Gal A. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Hum. Mutat. 1998, 12(3):206-211.
7. Funghini S., Donati M.A., Pasquini E., Zammarchi E., Morrone A. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Hum. Mutat. 2003, 22(4):340-341.
8. Häberle J., Schmidt E., Pauli S., Rapp B., Christensen E., Wermuth B., Koch H.G. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. Hum. Mutat. 2003, 21(4):444.
9. Summar M.L., Hall L.D., Eeds A.M., Hutcheson H.B., Kuo A.N., Willis A.S., Rubio V., Arvin M.K., Schofield J.P., Dawson E.P. Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene. Gene 2003, 311:51-57.
10. Aoshima T., Kajita M., Sekido Y., Kikuchi S., Yasuda I., Saheki T., Watanabe K., Shimokata K., Niwa T. Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Hum. Hered. 2001, 52(2):99-101.
11. Aoshima T., Kajita M., Sekido Y., Mimura S., Itakura A., Yasuda I., Saheki T., Watanabe K., Shimokata K., Niwa T. Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. Prenat. Diagn. 2001, 21(8):634-637.
12. Eeds A.M., Hall L.D., Yadav M., Willis A., Summar S., Putnam A., Barr F., Summar M.L. The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. Mol. Genet. Metab. 2006, 89(1-2):80-86.
13. Ono H., Suto T., Kinoshita Y., Sakano T., Furue T., Ohta T. A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age. Brain Dev. 2009, 31(10):779-781.
14. Rapp B., Häberle J., Linnebank M., Wermuth B., Marquardt T., Harms E., Koch H.G. Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. Eur. J. Pediatr. 2001, 160(5):283-287.
15. Klaus V., Vermeulen T., Minassian B., Israelian N., Engel K., Lund A.M., Roebrock K., Christensen E., Häberle J. Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?. Clin. Genet. 2009, 76(3):263-269.
16. Monjardino J.P., MacGillivray A.J. RNA and histone metabolism in small lymphocytes stimulated by phytohaemagglutinin. Exp. Cell Res. 1970, 60(1):1-15.
17. Nowell P.C. Phytohemagglutinin: an initiator of mitosis in cultures of normal human leukocytes. Cancer Res. 1960, 20:462-466.
18. Lowry O.H., Rosebrough N.J., Farr A.L., Randall R.J. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 1951, 193(1):265-275.
19. Robbins J.H. Tissue culture studies of the human lymphocyte. Science 1964, 146(3652):1648-1654.
20. Liu Y., Malaviarachchi P., Beggs M., Emanuel P.D. PTEN transcript variants caused by illegitimate splicing in "aged" blood samples and EBV-transformed cell lines. Hum. Genet. 2010, 128(6):609-614.
21. Hogervorst F.B., Cornelis R.S., Bout M., van Vliet M., Oosterwijk J.C., Olmer R., Bakker B., Klijn J.G., Vasen H.F., Meijers-Heijboer H., et al. Rapid detection of BRCA1 mutations by the protein truncation test. Nat. Genet. 1995, 10(2):208-212.
22. Jakubowska A., Gorski B., Byrski T., Huzarski T., Gronwald J., Menkiszak J., Cybulski C., Debniak T., Hadaczek P., Scott R.J., Lubinski J. Detection of germline mutations in the BRCA1 gene by RNA-based sequencing. Hum. Mutat. 2001, 18(2):149-156.